FAH gene | definition of FAH gene by Medical dictionary
fumarylacetoacetate hydrolase (redirected from FAH gene)
an enzyme that catalyzes the hydrolysis of fumarylacetoacetate to fumarate and acetoacetate; a deficiency indicates tyrosinemia IA.
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References in periodicals archive
The FAH gene is mapped in human chromosome 15q (15q23-25) and consists of 14 exons spanning over 35 kb of DNA.
Mutation analysis of FAH gene provides confirmation of the diagnosis and antenatal diagnosis (12).
Measurement of FAH in cultured fibroblast or documentation of pathogenic mutation in FAH gene is the confirmatory test.
Antenatal diagnosis can be done by mutation analysis FAH gene on chorionic villus sampling or amniocyte samples.
"We have designed a kit that can detect 12 of the 39 defined FAH gene
mutations commonly seen in Turkey.
The investigators also injected viruses carrying the FAH gene
into diseased livers.